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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs919364          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_014419.3:c.85G>A
NP_055234.1:p.Ala29Thr
NT_011109.15:g.22136103G>A
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss44183035 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs919364 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss1355520TSC-CSHL|TSC0232801byFreqfwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc09/06/0004/07/0486Genomic95 %
ss3250464YUSUKE|IMS-JST060549fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc09/05/0110/10/03100Genomicunknown
ss21544302SSAHASNP|WGSA-200403-chr19.chr19.NT_011109.15_22136103fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc03/20/0403/20/04121Genomicunknown
ss44183035ABI|hCV26654765byFreqfwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc07/18/0511/03/06126Genomicunknown
ss65720842ILLUMINA|Human1-rs919364fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc10/10/0610/10/06127Genomicunknown
ss66662117ILLUMINA|HumanHap300v1.1_rs919364fwd/BA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc11/09/0611/09/06127Genomicunknown
ss67894990ILLUMINA|HumanHap550v1.1_rs919364fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc11/14/0611/14/06127Genomicunknown
ss68029811ILLUMINA|HumanHap650Yv1.0_rs919364fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc11/14/0611/15/06127Genomicunknown
ss71594465ILLUMINA|HumanHap650Yv3.0_rs919364fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc04/23/0704/23/07127Genomicunknown
ss75535001ILLUMINA|ILMN_Human_1M_rs919364fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc08/28/0708/29/07129Genomicunknown
ss79289472ILLUMINA|HumanHap300v2.0_rs919364fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc04/18/0711/18/07130Genomicunknown
ss80730318KRIBB_YJKIM|KHS1002321fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc11/26/0711/26/07130Genomicunknown
ss83611549KRIBB_YJKIM|KHS501466fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc12/04/0712/05/07130Genomicunknown
ss96311686HUMANGENOME_JCVI|1103691162498fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc03/26/0803/26/08130Genomicunknown
ss98236451ILLUMINA|HumanHap550v3.0__rs919364rev/BC/Tgggcgtcagcatcatggataggagctgcagggaggggatcaccagggtagagaggagcag04/20/0703/31/08130Genomicunknown
ss1114678741000GENOMES|CEU.trio.12.15.2008_3629181_chr19_54559725fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc12/15/0812/17/08130Genomicunknown
ss1152296501000GENOMES|NA19240_2008_12_16_3271328_chr19_54559725fwd/TA/Gctgctcctctctaccctggtgatcccctccctgcagctcctatccatgatgctgacgccc12/18/0812/19/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs919364|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AAAAAAAAAA GCATATGAGA CAGAACCCAG AAGAGCCAGA CCTGGGAGAA GACGGGGCCT
 GGCAAGGTGG AGGGTGTGGG AGTAGAAGAA AGAAGCAGTG GGGGAAATGA GCGCGGTGTG
 GGAGTTGCCT GAACTGGGGA GGCGACCTGG GCAAGGTGCT GGAGAGGGGC GTCTTGGGTG
 GGGGCGTGGC CACTGTGCGG GGCTCTGACC CCGACCCTTG CCACAGCCTC CCCACCTGCC
 CCCGCAAGGC GGCATCTGCT GGTCCTGCTG CTGCTCCTCT CTACCCTGGT GATCCCCTCC
 R
 CTGCAGCTCC TATCCATGAT GCTGACGCCC AAGAGAGCTC CTTGGGTCTC ACAGGCCTCC
 AGAGCCTACT CCAAGGCTTC AGCCGACTTT TCCTGAAAGT AAGCGATGGC GGGGGGATGG
 GGGAAGAAGT ACTGAGAAGA GGTTCAGGGA CACAGAGTGG GAGATGGTTC AGGGCCAGGC
 AGGGGGACAG ACAGGATGAG AGGGCAACAG GGAGACCAAG AGATAGGAAG AGGGAAGGGA
 CTGGGCCCAG GCTATAATCA CAGCACTTTG GGAGGCTGAG GCAGAAGGAT CATTGGAGCC

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_011109 ABBA01032931
dbSNP Blast Analysis
UniGene Cluster ID
515855

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss1355520 CEL_african_american African American 60 IG 0.267 0.367 0.367 0.200 0.450 0.550
CEL_asian Asian 60 IG 0.033 0.433 0.533 0.403 0.250 0.750
CEL_caucasian European 60 IG 0.133 0.400 0.467 0.655 0.333 0.667
CEL_caucasian_CEPH European 310 IG 0.065 0.442 0.494 0.317 0.287 0.713
CEPH 184 AF 0.570 0.430
ss44183035 HapMap-CEU European 120 IG 0.033 0.433 0.533 0.251 0.250 0.750
HapMap-HCB Asian 90 IG 0.022 0.244 0.733 1.000 0.144 0.856
HapMap-JPT Asian 88 IG 0.068 0.250 0.682 0.200 0.193 0.807
HapMap-YRI Sub-Saharan African 120 IG 0.100 0.433 0.467 1.000 0.317 0.683
ss80730318 KHP1 180 AF 0.194 0.806

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.398+/-0.202 1914 1166 127 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: ILLUMINA
DoubleHit found by:  BCM_SSAHASNP, NCBI
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .